Mitochondrial tRNA methylation in Alzheimer's disease and progressive supranuclear palsy.

ABSTRACT:

Background

Methylation of mitochondrial tRNAs (mt-tRNA) at the 9th position ("p9 site") is known to impact translational efficiency and downstream mitochondrial function; however, direct assessment of mt-RNA methylation is challenging. Recent RNA sequence-based methods have been developed to reliably identify post-transcriptional methylation. Though p9 methylation has been studied in healthy human populations and in the context of cancer, it has not yet been analyzed in neurodegenerative disease, where mitochondrial dysfunction is a prominent and early hallmark of disease progression.

Methods

Mitochondrial p9 methylation was inferred from multi-allelic calls in RNA-seq data. Gene-based association studies were performed in FUMA. Correlations between nuclear gene expression a

SUBMITTER: Silzer TK 

PROVIDER: S-EPMC7236490 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature